INVS, inversin, 27130

N. diseases: 74; N. variants: 14
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266239
Disease: Congenital anomaly of bile ducts
Congenital anomaly of bile ducts
0.010 Biomarker group BEFREE In contrast to the mouse, the affected individuals have no biliary anomalies, and the absence of mutation in a series of seven cases with lateralization defect and biliary anomalies demonstrates that INV is not frequently involved in such a phenotype in humans. 11935322 2002